Refsum Disease



This disease is an inherited condition. Some of the symptoms of this disease are...
  1. vision impairments
  2. impaired hearing
  3. bone and skin changes
  4. loss of sense of smell

Adult refsum disease or ARD is a type of leukodystrophy--a group of genetic diseases which damage the white matter of the brain and can interfere with movements. It is also called Phytanic Acid Storage Disease, or Heredopathia Atactica Polyneuritiformis. People who have this disease do not have an enzyme that breaks down phytanic acid, which is in most foods. Because the acid cannot be broken down by their bodies, toxic levels of it build up in the


Figure8_FattyAcid.jpg